McArdle disease: Molecular genetic update

Acta Myologica

Volumn 26, Issue 1, 2007, Pages 53-57

  Andreu, Antonio L ^a,b   Nogales Gadea, G ^a,b   Cassandrini, D ^d   Arenas, J ^c   Bruno, C ^d  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

Glycogenosis type V; McArdle disease; PYGM gene

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MOLECULAR GENETICS;

GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MUSCLE, SKELETAL; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 34548615760     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

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